ABSTRACT: Newborn screening is a mandatory state-based public health program that provides all newborns in the United States with presymptomatic testing and necessary follow-up health care for a variety of medical conditions. The goal of this essential public health program is to decrease morbidit...

ABSTRACT: Von Willebrand disease, the most common inherited bleeding disorder among American women, is a common cause of heavy menstrual bleeding and other bleeding problems in women and adolescent girls. Von Willebrand disease and other inherited and acquired disorders of coagulation and hemostas...

ABSTRACT: Myelomeningocele, the most severe form of spina bifida, occurs in approximately 1 in 1,500 births in the United States. Fetuses in whom myelomeningocele is diagnosed typically are delivered at term and are treated in the early neonatal period. A recent randomized controlled trial found t...

ABSTRACT: Noninvasive prenatal testing that uses cell free fetal DNA from the plasma of pregnant women offers tremendous potential as a screening tool for fetal aneuploidy. Cell free fetal DNA testing should be an informed patient choice after pretest counseling and should not be part of routine p...

ABSTRACT: Advances in genetic technologies have led to the identification of hundreds of single nucleotide polymorphisms that are associated with a variety of complex diseases, including cancer, diabetes, cardiovascular disease, and Alzheimer disease. Although personalized genomic tests that provi...

ABSTRACT: Pharmacogenetics is the study of genetic variations in drug response that are determined by specific genes. It is hoped that the use of pharmacogenetics in clinical practice may improve drug safety and decrease the rate of adverse drug reactions. Given the potential applications of pharm...

ABSTRACT: In 2001, the American College of Obstetricians and Gynecologists and the American College of Medical Genetics introduced guidelines for prenatal and preconception carrier screening for cystic fibrosis. The American College of Obstetricians and Gynecologists' Committee on Genetics has upd...

ABSTRACT: Family history plays a critical role in assessing the risk of inherited medical conditions and single gene disorders. Several methods have been established to obtain family medical histories, including the family history questionnaire or checklist and the pedigree. The screening tool sel...

ABSTRACT: Fragile X syndrome is the most common inherited form of mental retardation. The syndrome occurs in approximately 1 in 3,600 males and 1 in 4,000–6,000 females. Approximately 1 in 250 females carry the premutation. DNA-based molecular analysis is the preferred method of diagnosis for frag...

ABSTRACT: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism characterized by a deficiency of the hepatic enzyme, phenylalanine hydroxylase, an enzyme responsible for the conversion of phenylalanine to tyrosine, and elevated levels of Phe and Phe metabolite....

ABSTRACT: Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screeni...

ABSTRACT: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that results from degeneration of spinal cord motor neurons leading to atrophy of skeletal muscle and overall weakness. In current practice, patients with a family history of SMA are being offered carrier s...

ABSTRACT: Preimplantation genetic screening differs from preimplantation genetic diagnosis for single gene disorders and was introduced for the detection of chromosomal aneuploidy. Current data does not support a recommendation for preimplantation genetic screening for aneuploidy using fluorescenc...

ABSTRACT: Genetic testing is poised to play an increasing role in the practice of obstetrics and gynecology. To assure patients of the highest quality of care, physicians should become familiar with the currently available array of genetic tests and the tests' limitations. Clinicians should be abl...

ABSTRACT: Marketing of genetic testing, although similar to direct-to-consumer advertising of prescription drugs, raises additional concerns and considerations. These include issues of limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretati...

ABSTRACT: Two types of banks have emerged for the collection and storage of umbilical cord blood—public banks and private banks. Public banks promote allogenic (related or unrelated) donation, analogous to the current collection of whole blood units in the United States. Private banks were initial...

ABSTRACT: Over the past two decades, the use of assisted reproductive technology (ART) has increased dramatically worldwide and has made pregnancy possible for many infertile couples. A growing body of evidence suggests an association between pregnancies resulting from ART and perinatal morbidity ...

ABSTRACT: Tay–Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. Carrier screening should be offered before pregnancy to individuals and couples at high risk, including those of Ashkenazi Jewish, French–Canadian, or Cajun descent and those with a f...